— New program improves access and speed to receiving a diagnosis for people and extended family members who may be living with Urea Cycle Disorders —
Horizon Therapeutics plc (HZNP) in partnership with Invitae Corporation (NVTA) today announced a new urea cycle disorder (UCD) genetic testing program designed to speed diagnosis and enable physicians to offer genetic testing at no-charge to people who may have a UCD, including their family members. Horizon’s support of the UCD Genetic Testing Program facilitates the genetic tests and services offered and performed by Invitae.
UCDs are rare, genetic disorders characterized by potentially toxic elevations of ammonia levels in the blood and brain (hyperammonemia). UCD symptoms may first occur at any age depending on the severity of the disorder, with more severe defects presenting earlier in life.1
“Patients with urea cycle disorders, particularly those who do not develop severe clinical signs of overwhelming hyperammonemia in the newborn period, can face a long and frustrating path to a correct diagnosis. Current diagnostic paradigms are complex and involve measurement of a variety of blood and urine substances – and still may not yield a definitive diagnosis” said Robert Nussbaum, M.D., chief medical officer, Invitae.
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